Schinzel-Giedion syndrome: A further cause of early myoclonic encephalopathy and vacuolating myelinopathy

Shuei Watanabe, Akitoshi Murayama, Kazuhiro Haginoya, Soichiro Tanaka, Noriko Togashi, Daiki Abukawa, Atsushi Sato, Masue Imaizumi, Hideto Yoshikawa, Rumiko Takayama, Keisuke Wakusawa, Satoru Kobayashi, Ikuko Sato, Akira Onuma

Research output: Contribution to journalArticlepeer-review

11 Citations (Scopus)

Abstract

Here, we report a male child with Schinzel-Giedion syndrome associated with intramyelinic edema detected on brain magnetic resonance imaging (MRI) and persistent suppression-burst pattern on electroencephalography (EEG) with erratic myoclonus of the extremities and face. Similar to nonketotic hyperglycinemia, Schinzel-Giedion syndrome may be recognized as another causative genetic disease of early myoclonic encephalopathy and vacuolating myelinopathy.

Original languageEnglish
Pages (from-to)151-155
Number of pages5
JournalBrain and Development
Volume34
Issue number2
DOIs
Publication statusPublished - 2012 Feb 1

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

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